Diagnosis and therapy of late onset Pompe disease

• Published in: Nervenarzt Vol. 84; no. 12; p. 1467
• Main Authors: Schüller, A, Kornblum, C, Deschauer, M, Vorgerd, M, Schrank, B, Mengel, E, Lukacs, Z, Gläser, D, Young, P, Plöckinger, U, Schoser, B
• Format: Journal Article
• Language: German
• Published: Germany 01-12-2013
• Subjects: Adult; Age Factors; alpha-Glucosidases - therapeutic use; Biopsy; Cooperative Behavior; Cross-Sectional Studies; Delphi Technique; Diagnosis, Differential; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - drug therapy; Glycogen Storage Disease Type II - epidemiology; Guideline Adherence; Humans; Interdisciplinary Communication; Magnetic Resonance Imaging; Muscle, Skeletal - pathology; Neurologic Examination; Randomized Controlled Trials as Topic
• ISSN: 1433-0407
• DOI: 10.1007/s00115-013-3947-9

As Pompe disease glycogen storage disease type 2 with a severely reduced life expectancy is now a treatable disorder, accurate diagnostic procedures and evidence-based indications for therapy are mandatory. We screened the literature for consensus reports and published trial data of late-onset Pompe disease. These data were summarized in a Delphi consensus method approach. The clinical suspicion of late-onset Pompe disease should be substantiated by the validated dry blood spot test measurement for acid α-glucosidase activity. Alternatively, enzyme activity analysis in lymphocytes is also feasible. Glucosidase α gene sequencing for verifying the diagnosis is recommended. A muscle biopsy including measurements of acid α-glucosidase activity and glycogen concentration is warranted for differential diagnosis in selected cases. The confirmed diagnosis should lead to a multidisciplinary treatment approach, possibly including enzyme replacement therapy.